Screening for HFE and iron overload

Seminars in Liver Disease

Volumn 25, Issue 4, 2005, Pages 402-410

  Ombiga, John ^b   Adams, Leon A ^a,b   Tang, Kevin ^b   Trinder, Debbie ^a,c   Olynyk, John K ^a,b,c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b FREMANTLE HOSPITAL   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Hemochromatosis; Penetrance; Screening

Indexed keywords

HFE PROTEIN; IRON;

CLINICAL FEATURE; CONFIDENTIALITY; COST EFFECTIVENESS ANALYSIS; EARLY DIAGNOSIS; GENE MUTATION; GENETIC PROCEDURES; GENETIC RISK; GENETIC SCREENING; HEMOCHROMATOSIS; HIGH RISK POPULATION; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; IRON OVERLOAD; LABORATORY TEST; LIFE EXPECTANCY; LIVER CIRRHOSIS; MASS SCREENING; MEDICAL ETHICS; MORBIDITY; PENETRANCE; PHLEBOTOMY; PRIORITY JOURNAL; PROGNOSIS; QUALITY ADJUSTED LIFE YEAR; RELATIVE; REVIEW; SCREENING TEST; TRANSFERRIN BLOOD LEVEL;

GENETIC MARKERS; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MEMBRANE PROTEINS; MUTATION;

EID: 28444496298     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-923312     Document Type: Review

References (90)

1. Bomford A. Genetics of hemochromatosis. Lancet 2002;360: 1673-1681
2. Njajou OT, Alizadeh BZ, Van Duijn CM. Is genetic screening for haemochromatosis worthwhile? Eur J Epidemiol 2004;19:101-108
3. Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med 2004;350:2383-2397
4. Olynyk JK, Cullen DJ, Aquilia S, et al. A population based study of clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718-724
5. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1778
6. Olynyk JK. Hereditary haemochromatosis: diagnosis and management in the gene era. Liver 1999;19:73-80
7. Jazwinska EC, Cullen LM, Busfield F, et al. Hemochromatosis and HLA-H. Nat Genet 1996;14:249-251
8. Willis G, Wimperis JZ, Lonsdale R, et al. Incidence of liver disease in people with HFE mutations. Gut 2000;46:401-404
9. Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002;122:646-651
10. Bacon BR. Hemochromatosis: diagnosis and management. Gastroenterology 2001;120:718-725
11. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-22
12. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004;36:77-82
13. Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-15
14. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-214
15. Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant haemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-623
16. Siah CW, Trinder D, Olynyk JK. Iron overload. Clin Chim Acta 2005;358:24-36
17. Gitlin JD. Aceruloplasminemia. Pediatr Res 1998;44:271-276
18. Hayashi A, Wada Y, Suzuki T, et al. Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. Am J Hum Genet 1993;53:201-213
19. Vautier G, Murray M, Olynyk JK. Hereditary haemochromatosis: detection and management. Med J Aust 2001;175:418-421
20. Dubois S, Kowdley K. Targeted screening for hereditary haemochromatosis in high-risk groups. Aliment Pharmacol Ther 2004;20:1-14
21. Bulaj ZJ, Ajioka RS, Phillips JD, et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000;343:1529-1535
22. Delatycki MB, Powell LW, Allen KJ. Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age? Genet Test 2004;8:98-103
23. Olynyk JK, Hagan SE, Cullen DJ, Beilby J. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc 2004;79:309-313
24. Andersen RV, Tybjrg-Hansen A, Appleyard M, et al. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 2004;103:2914-2919
25. Krawczak M, Cooper DN, Schmidtke J. Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet 2001;69:361-370
26. El-Serag HB, Inadomi JM, Kowdley KV. Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Ann Intern Med 2000;132:261-269
27. Adams PC, Kertesz AE, Valberg LS. Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology 1995;22:1720-1727
28. Cadet E, Capron D, Gallet M. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? J Med Genet 2005;42:390-395
29. Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol 2001;154:193-206
30. Rochette J, Pointon J, Fisher CA, et al. Multicentre origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-1062
31. Khoury MJ, Burke W, Thomson EJ. Genetics and public health: a framework for the integration of human genetics into public health practices. In: Khoury MJ, Burke W, Thomson EJ, eds. Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease. New York, NY: Oxford University Press; 2000:3-24
32. Burke W, Thomson E, Khoury MJ, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998;280:172-178
33. US Preventative Task Force. Guide to Clinical Preventative Services: Report of the US Preventative Services Task Force. 2nd ed. Baltimore, MD: US Preventative Task Force; 1996:231-246
34. Wilson JM, Junger G. The Principles and Practice of Screening for Disease. Public Health Paper 34. Geneva, Switzerland: World Health Organization; 1968
35. Burke W, Coughlin SS, Lee NC, Weed DL. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001;5:201-211
36. Cogswell ME, McDonnell SM, Khoury MJ. Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998;129:971-979
37. EASL International Consensus Conference on Hemochromatosis III. Jury document. J Hepatol 2000;33:496-504
38. Adams PC, Reboussin DM, Leiendecker-Foster C, et al. Comparison of the unsaturated iron-binding capacity with transferrin saturation as a screening test to detect C282Y homozygotes for hemochromatosis in 101 168 participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Clin Chem 2005;51:1048-1052
39. McLaren CE, McLachlan GJ, Halllday JW, et al. Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of haemochromatosis. Gastroenterology 1998;114:543-549
40. McDonnell SM, Phatak PD, Felitti V, et al. Screening for hemochromatosis in primary care settings. Ann Intern Med 1998;129:962-970
41. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary haemochromatosis. Gastroenterology 1996;110: 1107-1119
42. Bacon BR, Sadiq SA. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 1997;92:784-789
43. Waalen J, Felitti V, Gelbert T, et al. Prevalence of hemochromatosis- related symptoms among individuals with mutations in the HFE gene. Mayo Clin Proc 2002;77:522-530
44. Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-218
45. McCune CA, Al-Jader LN, May A, et al. Hereditary hemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload. Hum Genet 2002;111:538-543
46. Asberg A, Hveem K, Thorstensen E, et al. High prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-1115
47. Powell L, Dixon J, Ramm G, Anderson GJ. The penetrance of HFE-associated hemochromatosis as assessed by liver biopsy in subjects identified by health checks, family screening or population screening. Hepatology 2004;40:574A
48. Leggett BA, Brown NN, Bryant SJ, et al. Factors affecting the concentrations of ferritin in serum in a healthy Australian population. Clin Chem 1990;36:1350-1355
49. Bhavnani M, Lloyd D, Bhattacharyyra A, et al. Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase. Gut 2000;46:707-710
50. Poullis A, Moodie SJ, Ang L, et al. Routine transferrin saturation measurement in liver clinic patients increases detection of hereditary haemochromatosis. Ann Clin Biochem 2003;40:521-527
51. Bacon BR, Olynyk JK, Brunt EM, et al. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999;130:953-962
52. Green RM, Flamm S. AGA Medical Position Statement: Evaluation of Liver Chemistry Tests. Gastroenterology 2002;123:1367-1384
53. Kazemi-Shirazi L, Datz C, Maier-Dobersberger T, et al. The relation of iron status and hemochromatosis gene mutations in patients with chronic hepatitis C. Gastroenterology 1999;116:127-134
54. Bugianesi E, Manzini P, Antico S, et al. Relative contribution of iron overload, HFE mutations and insulin resistance to fibrosis in non-alcoholic fatty liver. Hepatology 2004;39:179-187
55. Lauret E, Rodrigues M, Gonzales S, et al. HFE gene mutations in alcoholic and virus-related cirrhotic patients with hepatocellular carcinoma. Am J Gastroenterol 2002;97: 1016-1021
56. Turnbull AJ, Michison HC, Pearson RT, et al. The prevalence of hereditary hemochromatosis in a diabetic population. QJM 1997;90:271-275
57. Phelps G, Chapman I, Hall P, et al. Prevalence of genetic haemochromatosis among diabetic patients. Lancet 1989;2:233-234
58. George DK, Evans RM, Crofton RW, et al. Testing of haemochromatosis in the diabetic clinic. Ann Clin Biochem 1995;32:S21-526
59. Njajou OT, Alizadeh BZ, Vaessen N, et al. The role of hemochromatosis C282Y and H63D gene mutations in type 2 diabetes: findings from the Rotterdam Study and metaanalysis [letter]. Diabetes Care 2002;25:2112-2113
60. Mainous AG, King DE, Pearson WS, Garr D. Is elevated serum transferrin saturation associated with the development of diabetes? J Fam Pract 2002;51:933-936
61. Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet 2001;358: 1405-1409
62. Hramiak IM, Finegood DT, Adams PC. Factors affecting glucose tolerance in hereditary hemochromatosis. Clin Invest Med 1997;20:110-118
63. Willis G, Scott DG, Jennings BA, et al. HFE mutations in an inflammatory arthritis population. Rheumatology 2002;41: 176-179
64. Olynyk J, Hall P, Ahern M, et al. Prevalence of genetic haemochromatosis in patients with peripheral arthritis. Aust N Z J Med 1994;24:22-25
65. Cauza E, Hanusch-Enserer U, Etemad M, et al. HFE genotyping demonstrates a significant incidence of hemochromatosis in undifferentiated arthritis. Clin Exp Rheumatol 2005;23:7-12
66. Ross JM, Kowalchuk RM, Shaulinsky J, et al. Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis. J Rheumatol 2003;30:121-125
67. Sherrington CA, Knuiman MW, Divitini ML, et al. A population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis. J Gastroenterol Hepatol 2005;(in press)
68. Timms AE, Sathananthan R, Bradbury L, et al. Genetic testing for hemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis 2002;61:745-747
69. Phatak PD, Guzman G, Woll JE, et al. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med 1994;154:769-776
70. Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-316
71. Balan V, Baldus W, Fairbanks V, Michels V. Screening for hemochromatosis: a cost-effectiveness study based on 12, 258 patients. Gastroenterology 1994;107:453-459
72. Adams PC, Gregor JC, Kertesz AE, et al. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology 1995;109:177-188
73. Asberg A, Tretli S, Hveem K, Bjerve KS. Benefit of population-based screening for phenotypic hemochromatosis in young men. Scand J Gastroenterol 2002;37:1212-1219
74. Patch C, Roderick P, Rosenberg W. Factors affecting the uptake of screening: a randomised controlled non-inferiority trial comparing a genotypic and a phenotypic strategy for screening for haemochromatosis. J Hepatol 2005;43:149-155
75. Adams PC. Screening for haemochromatosis-producing or preventing illness? Lancet 2005;366:269-271
76. Olynyk JK, Trinder D, Milward E. Hereditary haemochromatosis: to screen or not to screen. J Hepatol 2005;43:9-10
77. Clayton EW. Ethical, legal, and social implications of genomic medicine. N Engl J Med 2003;349:562-569
78. Beauchamp TL, Childress JF. Principles of Biomedical Ethics. 5th ed. New York: Oxford University Press; 2001
79. Nisselle AE, Delatycki MB, Collins V, et al. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clin Genet 2004;65:358-367
80. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 1995;57:1233-1241
81. Nelson RM, Botkjin JR, Kodish ED, et al. Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics 2001;107:1451-1455
82. Committee on Genetics. Molecular genetic testing in pediatric practice: a subject review. Pediatrics 2000;106: 1494-1497
83. Alper JS, Geller LN, Barash CI, et al. Genetic discrimination and screening for hemochromatosis. J Public Health Policy 1994;15:345-358
84. Shaheen NJ, Lawrence LB, Bacon BR, et al. Insurance, employment and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end organ damage. Am J Gastroenterol 2003;98:1175-1180
85. Genetic Information Nondiscrimination Act of 2005 (S.306). Available at: http://thomas.loc.gov. Accessed June 14, 2005
86. Delatycki M, Allen K, Williamson R. Insurance agreement to facilitate genetic testing [letter]. Lancet 2002;359:1433
87. Godard B, Raeburn S, Pembrey M. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet 2003;11 (suppl 2):S123-S142
88. European Society of Human Genetics. Genetic information and testing in insurance and employment: technical, social and ethical issues. Recommendations of the European Society of Human Genetics. Eur J Hum Genet 2003;11 (suppl 2):S11-S12
89. The American Society of Human Genetics. Statement on informed consent for genetic research. Am J Hum Genet 1996;59:471-474
90. Allen K, Williamson R. Should we genetically test everyone for haemochromatosis? J Med Ethics 1999;25:209-214